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Special Issue "Rare Kidney Diseases: New Translational Research Approach to Improve Diagnosis and Therapy"
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: 30 April 2020.
Interests: recognition of biological elements regulating acute and chronic renal disorders; identification of new diagnostic biomarkers for glomerular diseases, tubule-interstitial renal diseases; selection of novel therapeutic targets for rare and complex kidney disorders; pharmacogenomics/genetics
Interests: rare kidney diseases; kidney cystic disorders; nephrolithiasis; genetic/genomic and biomolecular determinants of rare and complex renal diseases; chronic kidney disease
Rare kidney diseases comprise a group of 150 different life-threatening or chronically debilitating disorders (e.g., Fabry Disease, autosomal recessive polycystic disease, medullary cystic disease, Alport Syndrome, primary hyperoxaluria, primary glomerulonephritis, systemic vasculitis, and familial/recurrent hemolytic uremic syndrome) that affect very small numbers of people (<1 in 2000 individuals in Europe and <200,000 in USA) with local or systemic manifestations. For several years, research and development of treatments in this field have been neglected in favor of more common diseases. The main reasons of the lack of interest in rare kidney diseases seem to be the small numbers of patients and limited epidemiological data on the natural history of many of these diseases.
Rare diseases can affect people differently. Even patients with the same condition can exhibit very different signs and symptoms, or there may be many subtypes of the same condition. This diversity constitutes a significant challenge to healthcare practitioners and scientists alike in terms of being able to acquire sufficient experience for the most appropriate and timely definition, diagnosis, and management.
Fortunately, in the last ten years, concerted efforts have led to a marked improvement in the understanding of these disorders. In particular, an important step forward has been taken with the employment of innovative technologies (including next-generation sequencing) in order to replace obsolete phenotypic classifications and to discover new useful diagnostic biomarkers. These new tools are in fact becoming part of routine clinical practice, increasing diagnostic accuracy and facilitating genetic counseling.
Moreover, biomedical research, providing insights into the pathologies of these rare diseases and elucidating their underlying mechanisms, is revealing new therapeutic avenues and driving the industry to develop safer and more effective orphan drugs.
Finally, in this field, it is desirable that in future, the cross-talk between basic scientists and clinicians could achieve a great clinical benefit also by improving the quality of life of these patients.
This Special Issue welcomes scientific contributions and critical reviews describing new pathogenetic insights, reporting novel and specific disease biomarkers and underlying new pharmacological targets or therapies for rare diseases of the kidney and urinary tract.
Prof. Gianluigi Zaza
Prof. Giovanni Gambaro
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- Rare kidney diseases
- new diagnostic biomarkers
- selection of novel therapeutic targets for rare and complex kidney disorders
The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.
Title: Genetic analyses in Dent disease and characterization of CLCN5 mutations in kidney biopsies
Author: Franca Anglani
Abstract: Phenotypic and genetic heterogeneity characterizes Dent disease (DD), an X-linked renal tubulopathy mainly caused by loss-of-function mutations in CLCN5 (DD1) and OCRL genes. About 25% of DD cases lacks mutation in either genes (DD3) and no other disease-genes are known. CLCN5 encodes ClC-5 antiporter that participates to receptor-mediated protein endocytosis in proximal tubules (PT). Few studies have analyzed PT ClC-5 expression in DD1 patients. This paper describes 23 novel CLCN5 disease-causing mutations and shows that PT ClC-5 expression is lost in DD1 resulting in defective trafficking of megalin and cubilin. Analyzing by Whole Exome Sequencing seven DD3 patients also suggests that the concomitant presence of likely pathogenic variants in genes encoding megalin, cubilin and NHE3, components of PT endocytic apparatus, may have a role in determining DD-like phenotypes.
Title: A new vision of IgA Nephropathy: the missing link
Author: Fabio Sallustio1, 2, Claudia Curci2, Vincenzo Di Leo2, Francesco Pesce2, Loreto Gesualdo2
Affiliations: 1. Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari "Aldo Moro", Bari, Italy; 2. Nephrology, Dialysis and Transplantation Unit, DETO, University “Aldo Moro” Bari, Italy
Abstract: IgA Nephropathy (IgAN) is a primary glomerulonephritis worldwide that develops mainly in the 2nd and 3rd decade of life and reaches end-stage kidney disease (ESKD) after 20 years from the biopsy-proven diagnosis implying a great socio-economical burden. IgAN may occur in a sporadic or familial form, with familial clustering suggesting a strong genetic involvement. Several extended kindreds segregating IgAN have been reported in different areas of the world. The routine urine analysis carried out on first degree relatives of IgAN patients shows a 25% higher occurrence of urinary abnormalities compared to unrelated subjects and a higher risk of developing IgAN. Furthermore, studies on familial IgAN have shown that 66% of asymptomatic relatives carry immunological defects such as high IgA serum levels, abnormal spontaneous in vitro production of IgA from peripheral blood mononuclear cells (PBMCs), high serum levels of aberrantly glycosylated IgA1 and altered PBMC cytokine production profile. These familial immunological abnormalities, reported in different ethnic groups suggest, firstly that some individuals may be carriers of immunological abnormalities but continue to be apparently healthy and secondly that additional cofactors are required for the development of IgAN. These findings led to focalize the attention on new perspective to study the pathogenesis of this disease and new studies showed the involvement of factors driven by environment, lifestyle or diet that could affect the disease.
In this review, we describe the results of studies carried out in IgAN patients moving from genomic studies, to transcriptomics carried out on circulating immune cells and kidney biopsy specimens and then to epigenomics. Finally, we suggest a new vision to consider the IgA Nephropathy not disconnected from the environment in which we live but influenced, in addition to the genetic background, also by other environmental and behavioral factors that could be useful to develop precision nephrology and personalized therapy.